.\" DO NOT MODIFY THIS FILE! It was generated by help2man 1.47.4. .TH SNP_STORE "1" "June 2017" "snp_store 2.3.1+dfsg-4" "User Commands" .SH NAME snp_store \- SnpStore .PP SYNOPSIS .IP snp_store [OPTIONS] [ ...] .PP DESCRIPTION .IP SNP and Indel Calling in Mapped Read Data. .PP REQUIRED ARGUMENTS .IP GENOME INPUT_FILE .IP A reference genome file. Valid filetypes are: .fasta and .fa. .IP ALIGNMENTS List of INPUT_FILE's .IP Read alignment file(s) sorted by genomic position. Valid filetypes are: .sam[.*], .gff, and .bam, where * is any of the following extensions: gz and bgzf for transparent (de)compression. .PP OPTIONS .HP \fB\-h\fR, \fB\-\-help\fR .IP Display the help message. .HP \fB\-\-version\-check\fR BOOL .IP Turn this option off to disable version update notifications of the application. One of 1, ON, TRUE, T, YES, 0, OFF, FALSE, F, and NO. Default: 1. .HP \fB\-\-version\fR .IP Display version information. .IP Main Options: .HP \fB\-o\fR, \fB\-\-output\fR OUTPUT_FILE .IP SNP output file (mandatory). Valid filetype is: .vcf. .HP \fB\-osc\fR, \fB\-\-only\-successful\-candidates\fR .IP Output only successfully called SNP candidates. Default: Output all candidates. .HP \fB\-dc\fR, \fB\-\-dont\-clip\fR .IP Ignore clip tags in gff. Default: off. .HP \fB\-mu\fR, \fB\-\-multi\fR .IP Keep non\-unique fragmentStore.alignedReadStore. Default: off. .HP \fB\-hq\fR, \fB\-\-hide\-qualities\fR .IP Only show coverage (no qualities) in SNP output file. Default: off. .HP \fB\-sqo\fR, \fB\-\-solexa\-qual\-offset\fR .IP Base qualities are encoded as char value \- 64 (instead of char \- 33). .HP \fB\-id\fR, \fB\-\-indel\-file\fR OUTPUT_FILE .IP Output file for called indels in gff format. Default: off. Valid filetype is: .gff. .HP \fB\-m\fR, \fB\-\-method\fR STRING .IP Set method used for SNP calling either threshold based or Maq method. One of thresh and maq. Default: maq. .HP \fB\-mp\fR, \fB\-\-max\-pile\fR INTEGER .IP Maximal number of matches allowed to pile up at the same genome position. In range [1..inf]. Default: 1. .HP \fB\-mmp\fR, \fB\-\-merged\-max\-pile\fR .IP Do pile up correction on merged lanes. Default: off. .HP \fB\-mc\fR, \fB\-\-min\-coverage\fR INTEGER .IP Minimal required number of reads covering a candidate position. In range [1..inf]. Default: 5. .HP \fB\-fc\fR, \fB\-\-force\-call\fR INTEGER .IP Always call base if count is >= fc, ignore other parameters. Default: off. In range [1..inf]. Default: 10. .HP \fB\-oa\fR, \fB\-\-orientation\-aware\fR .IP Distinguish between forward and reverse reads. Default: off. .HP \fB\-mpr\fR, \fB\-\-max\-polymer\-run\fR INTEGER .IP Discard indels in homopolymer runs longer than mpr. In range [0..inf]. Default: 100. .HP \fB\-dp\fR, \fB\-\-diff\-pos\fR INTEGER .IP Minimal number of different read positions supporting the mutation. In range [0..inf]. Default: 0. .HP \fB\-eb\fR, \fB\-\-exclude\-border\fR INTEGER .IP Exclude read positions within eb base pairs of read borders for SNV calling. Default: off. In range [0..inf]. Default: 0. .HP \fB\-su\fR, \fB\-\-suboptimal\fR .IP Keep suboptimal reads. Default: off .HP \fB\-re\fR, \fB\-\-realign\fR .IP Realign reads around indel candidates. Default: off .HP \fB\-pws\fR, \fB\-\-parse\-window\-size\fR INTEGER .IP Genomic window size for parsing reads (concerns memory consumption, choose smaller windows for higher coverage). In range [1..inf]. Default: 1000000. .IP Threshold method related: .HP \fB\-mm\fR, \fB\-\-min\-mutations\fR INTEGER .IP Minimal number of observed mutations for mutation to be called. In range [1..inf]. Default: 3. .HP \fB\-pt\fR, \fB\-\-perc\-threshold\fR DOUBLE .IP Minimal percentage of mutational base for mutation to be called. In range [0..inf]. Default: 0.25. .HP \fB\-mq\fR, \fB\-\-min\-quality\fR DOUBLE .IP Minimal average quality of mutational base for mutation to be called. In range [0..inf]. Default: 10. .IP Maq method related: .HP \fB\-th\fR, \fB\-\-theta\fR DOUBLE .IP Dependency coefficient. In range [0..inf]. Default: 0.85. .HP \fB\-hr\fR, \fB\-\-hetero\-rate\fR DOUBLE .IP Heterozygote rate. In range [0..1]. Default: 0.001. .HP \fB\-mmq\fR, \fB\-\-min\-map\-quality\fR INTEGER .IP Minimum base call (mapping) quality for a match to be considered. In range [0..inf]. Default: 1. .HP \fB\-ch\fR, \fB\-\-corrected\-het\fR .IP Use amplification bias corrected distribution for heterozygotes. Default: off. .HP \fB\-maf\fR, \fB\-\-mean\-alleleFreq\fR DOUBLE .IP Mean ref allele frequency in heterozygotes. In range [0..inf]. Default: 0.51. .HP \fB\-ac\fR, \fB\-\-amp\-cycles\fR INTEGER .IP Number of amplification cycles. In range [0..inf]. Default: 18. .HP \fB\-ae\fR, \fB\-\-amp\-efficiency\fR DOUBLE .IP Polymerase efficiency, probability of amplification. In range [0..1]. Default: 0.3. .HP \fB\-in\fR, \fB\-\-initial\-N\fR INTEGER .IP Initial allele population size. In range [0..inf]. Default: 10. .HP \fB\-mec\fR, \fB\-\-min\-explained\-column\fR DOUBLE .IP Minimum fraction of alignment column reads explained by genotype call. In range [0..1]. Default: 0.8. .IP Indel calling options: .HP \fB\-it\fR, \fB\-\-indel\-threshold\fR INTEGER .IP Minimal number of indel\-supporting reads required for indel calling. In range [1..inf]. Default: 3. .HP \fB\-ipt\fR, \fB\-\-indel\-perc\-threshold\fR DOUBLE .IP Minimal ratio of indel\-supporting/covering reads for indel to be called. In range [0..1]. Default: 0.25. .HP \fB\-iqt\fR, \fB\-\-indel\-quality\-thresh\fR INTEGER .IP Minimal average quality of inserted base/deletion\-neighboring bases for indel to be called. In range [0..inf]. Default: 1. .HP \fB\-bsi\fR, \fB\-\-both\-strands\-indel\fR .IP Both strands need to be observed for indel to be called. Default: off. .HP \fB\-ebi\fR, \fB\-\-exclude\-border\-indel\fR INTEGER .IP Same as option \fB\-eb\fR but for indel candidates. In range [0..inf]. Default: 0. .IP Other options: .HP \fB\-lf\fR, \fB\-\-log\-file\fR STRING .IP Write log to FILE. .HP \fB\-v\fR, \fB\-\-verbose\fR .IP Enable verbose output. .HP \fB\-vv\fR, \fB\-\-very\-verbose\fR .IP Enable very verbose output. .HP \fB\-q\fR, \fB\-\-quiet\fR .IP Set verbosity to a minimum. .PP EXAMPLES .IP snp_store \fB\-mc\fR 2 \fB\-it\fR 2 exampleGenome.fa exampleReads.gff \fB\-o\fR exampleSNPs.vcf \fB\-id\fR exampleIndels.gff .IP Call SNPs and indels of a low\-coverage example (minimum coverage and indel threshold were reduced to 2). .IP snp_store \fB\-re\fR \fB\-mc\fR 2 \fB\-it\fR 2 exampleGenome.fa exampleReads.gff \fB\-o\fR exampleSNPs.vcf \fB\-id\fR exampleIndels.gff .IP Computes a realignment before variant calling. Now, the two 1bp insertions should have been merged into one 2bp insertion. .PP VERSION .IP Last update: snp_store version: 1.3.6 [tarball] SeqAn version: 2.3.1